It is unclear whether ALS and dementia share common aetiology and pathogenesis in ALS/dementia.

Result

Functional analysis showed that mutations in UBQLN2 lead to an impairment of protein degradation. Therefore, findings link abnormalities in ubiquilin2 to defects in the protein degradation pathway, abnormal protein aggregation and neurodegeneration, indicating a common pathogenic mechanism that can be exploited for therapeutic intervention.